Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 18 5290905 5290905 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr18:5290905C>T c.1302G>A c.(1300-1302)gcG>gcA p.A434A BRCA 18 5290912 5290912 + Missense_Mutation SNP G G A TCGA-A8-A06T-01A-11W-A019-09 TCGA-A8-A06T-10A-01W-A021-09 g.chr18:5290912G>A c.1295C>T c.(1294-1296)gCg>gTg p.A432V BRCA 18 5290995 5290995 + Silent SNP C C T TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr18:5290995C>T c.1212G>A c.(1210-1212)ctG>ctA p.L404L BRCA 18 5291276 5291276 + Missense_Mutation SNP T T C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 g.chr18:5291276T>C c.931A>G c.(931-933)Aca>Gca p.T311A BRCA 18 5291339 5291339 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chr18:5291339C>T c.868G>A c.(868-870)Ggc>Agc p.G290S BRCA 18 5291511 5291511 + Silent SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 g.chr18:5291511C>T c.696G>A c.(694-696)ggG>ggA p.G232G CESC 18 5291062 5291062 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr18:5291062C>T c.1145G>A c.(1144-1146)aGa>aAa p.R382K COAD 18 5290968 5290968 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:5290968A>G c.1239T>C c.(1237-1239)agT>agC p.S413S COAD 18 5290978 5290978 + Missense_Mutation SNP T T A TCGA-AA-3930-01A-01W-0995-10 TCGA-AA-3930-10A-01W-0995-10 g.chr18:5290978T>A c.1229A>T c.(1228-1230)aAt>aTt p.N410I COAD 18 5291047 5291047 + Frame_Shift_Del DEL T T - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr18:5291047delT c.1160delA c.(1159-1161)aagfs p.K387fs COAD 18 5291118 5291118 + Silent SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr18:5291118G>A c.1089C>T c.(1087-1089)tgC>tgT p.C363C COAD 18 5291169 5291169 + Silent SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr18:5291169T>C c.1038A>G c.(1036-1038)ccA>ccG p.P346P COAD 18 5291189 5291189 + Missense_Mutation SNP T T G TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr18:5291189T>G c.1018A>C c.(1018-1020)Aaa>Caa p.K340Q COAD 18 5291249 5291249 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr18:5291249G>A c.958C>T c.(958-960)Ctg>Ttg p.L320L COAD 18 5291559 5291559 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr18:5291559G>A c.648C>T c.(646-648)taC>taT p.Y216Y COAD 18 5291874 5291874 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr18:5291874C>T c.333G>A c.(331-333)tcG>tcA p.S111S COAD 18 5291921 5291921 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr18:5291921C>T c.286G>A c.(286-288)Gca>Aca p.A96T COAD 18 5291963 5291963 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:5291963G>A c.244C>T c.(244-246)Cgt>Tgt p.R82C COADREAD 18 5290968 5290968 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:5290968A>G c.1239T>C c.(1237-1239)agT>agC p.S413S COADREAD 18 5290978 5290978 + Missense_Mutation SNP T T A TCGA-AA-3930-01A-01W-0995-10 TCGA-AA-3930-10A-01W-0995-10 g.chr18:5290978T>A c.1229A>T c.(1228-1230)aAt>aTt p.N410I COADREAD 18 5291047 5291047 + Frame_Shift_Del DEL T T - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr18:5291047delT c.1160delA c.(1159-1161)aagfs p.K387fs COADREAD 18 5291118 5291118 + Silent SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr18:5291118G>A c.1089C>T c.(1087-1089)tgC>tgT p.C363C COADREAD 18 5291169 5291169 + Silent SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr18:5291169T>C c.1038A>G c.(1036-1038)ccA>ccG p.P346P COADREAD 18 5291189 5291189 + Missense_Mutation SNP T T G TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr18:5291189T>G c.1018A>C c.(1018-1020)Aaa>Caa p.K340Q COADREAD 18 5291249 5291249 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr18:5291249G>A c.958C>T c.(958-960)Ctg>Ttg p.L320L COADREAD 18 5291559 5291559 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr18:5291559G>A c.648C>T c.(646-648)taC>taT p.Y216Y COADREAD 18 5291874 5291874 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr18:5291874C>T c.333G>A c.(331-333)tcG>tcA p.S111S COADREAD 18 5291921 5291921 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr18:5291921C>T c.286G>A c.(286-288)Gca>Aca p.A96T COADREAD 18 5291963 5291963 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:5291963G>A c.244C>T c.(244-246)Cgt>Tgt p.R82C ESCA 18 5291265 5291265 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr18:5291265G>A c.942C>T c.(940-942)ttC>ttT p.F314F ESCA 18 5291775 5291775 + Nonsense_Mutation SNP A A C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 g.chr18:5291775A>C c.432T>G c.(430-432)taT>taG p.Y144* GBMLGG 18 5291149 5291149 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:5291149C>A c.1058G>T c.(1057-1059)aGa>aTa p.R353I GBMLGG 18 5291231 5291231 + Missense_Mutation SNP T T G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 g.chr18:5291231T>G c.976A>C c.(976-978)Atc>Ctc p.I326L GBMLGG 18 5291505 5291505 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:5291505C>A c.702G>T c.(700-702)caG>caT p.Q234H GBMLGG 18 5291622 5291622 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:5291622G>A c.585C>T c.(583-585)ctC>ctT p.L195L GBMLGG 18 5291661 5291661 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr18:5291661G>A c.546C>T c.(544-546)ccC>ccT p.P182P HNSC 18 5291107 5291107 + Missense_Mutation SNP T T A TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr18:5291107T>A c.1100A>T c.(1099-1101)gAc>gTc p.D367V HNSC 18 5291112 5291112 + Missense_Mutation SNP C C T TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr18:5291112C>T c.1095G>A c.(1093-1095)atG>atA p.M365I HNSC 18 5291170 5291170 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 g.chr18:5291170G>A c.1037C>T c.(1036-1038)cCa>cTa p.P346L HNSC 18 5291434 5291434 + Missense_Mutation SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr18:5291434G>C c.773C>G c.(772-774)aCa>aGa p.T258R HNSC 18 5291439 5291439 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr18:5291439C>G c.768G>C c.(766-768)tgG>tgC p.W256C HNSC 18 5291781 5291781 + Silent SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr18:5291781A>G c.426T>C c.(424-426)agT>agC p.S142S HNSC 18 5291825 5291825 + Missense_Mutation SNP G G A TCGA-QK-A6IJ-01A-11D-A31L-08 TCGA-QK-A6IJ-10A-01D-A31J-08 g.chr18:5291825G>A c.382C>T c.(382-384)Cgt>Tgt p.R128C LGG 18 5291149 5291149 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:5291149C>A c.1058G>T c.(1057-1059)aGa>aTa p.R353I LGG 18 5291231 5291231 + Missense_Mutation SNP T T G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 g.chr18:5291231T>G c.976A>C c.(976-978)Atc>Ctc p.I326L LGG 18 5291505 5291505 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:5291505C>A c.702G>T c.(700-702)caG>caT p.Q234H LGG 18 5291622 5291622 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:5291622G>A c.585C>T c.(583-585)ctC>ctT p.L195L LGG 18 5291661 5291661 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr18:5291661G>A c.546C>T c.(544-546)ccC>ccT p.P182P LIHC 18 5290910 5290910 + Frame_Shift_Del DEL C C - TCGA-ED-A66Y-01A-11D-A30V-10 TCGA-ED-A66Y-10A-01D-A30V-10 g.chr18:5290910delC c.1297delG c.(1297-1299)gcafs p.A434fs LIHC 18 5291320 5291320 + Missense_Mutation SNP T T C TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr18:5291320T>C c.887A>G c.(886-888)gAg>gGg p.E296G LIHC 18 5291325 5291325 + Missense_Mutation SNP C C A TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr18:5291325C>A c.882G>T c.(880-882)aaG>aaT p.K294N LIHC 18 5291933 5291933 + Missense_Mutation SNP A A T TCGA-RC-A7SF-01A-11D-A34Z-10 TCGA-RC-A7SF-10A-01D-A34Z-10 g.chr18:5291933A>T c.274T>A c.(274-276)Tac>Aac p.Y92N LUAD 18 5290892 5290892 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr18:5290892delC c.1315delG c.(1315-1317)gcafs p.A439fs LUAD 18 5290937 5290937 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr18:5290937G>C c.1270C>G c.(1270-1272)Cag>Gag p.Q424E LUAD 18 5291177 5291177 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr18:5291177G>A c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C LUAD 18 5291201 5291201 + Nonsense_Mutation SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr18:5291201C>A c.1006G>T c.(1006-1008)Gag>Tag p.E336* LUAD 18 5291320 5291320 + Missense_Mutation SNP T T C TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr18:5291320T>C c.887A>G c.(886-888)gAg>gGg p.E296G LUAD 18 5291358 5291358 + Frame_Shift_Del DEL C C - TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr18:5291358delC c.849delG c.(847-849)gggfs p.G283fs LUAD 18 5291435 5291435 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr18:5291435T>C c.772A>G c.(772-774)Aca>Gca p.T258A LUAD 18 5291456 5291456 + Missense_Mutation SNP C C G TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr18:5291456C>G c.751G>C c.(751-753)Gaa>Caa p.E251Q LUAD 18 5291498 5291498 + Missense_Mutation SNP G G C TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr18:5291498G>C c.709C>G c.(709-711)Caa>Gaa p.Q237E LUAD 18 5291625 5291625 + Silent SNP C C G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr18:5291625C>G c.582G>C c.(580-582)acG>acC p.T194T LUAD 18 5291654 5291654 + Nonsense_Mutation SNP G G A TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr18:5291654G>A c.553C>T c.(553-555)Cag>Tag p.Q185* LUAD 18 5291963 5291963 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr18:5291963G>A c.244C>T c.(244-246)Cgt>Tgt p.R82C LUAD 18 5291982 5291982 + Silent SNP G G A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr18:5291982G>A c.225C>T c.(223-225)gtC>gtT p.V75V LUAD 18 5292182 5292182 + Missense_Mutation SNP C C T TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr18:5292182C>T c.25G>A c.(25-27)Gaa>Aaa p.E9K LUSC 18 5291254 5291254 + Missense_Mutation SNP G G T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr18:5291254G>T c.953C>A c.(952-954)gCc>gAc p.A318D LUSC 18 5291962 5291962 + Missense_Mutation SNP C C T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr18:5291962C>T c.245G>A c.(244-246)cGt>cAt p.R82H OV 18 5291171 5291171 + Missense_Mutation SNP G G A TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 g.chr18:5291171G>A c.1036C>T c.(1036-1038)Cca>Tca p.P346S PAAD 18 5290889 5290889 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:5290889C>T c.1318G>A c.(1318-1320)Gaa>Aaa p.E440K PCPG 18 5291780 5291780 + Missense_Mutation SNP T T G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 g.chr18:5291780T>G c.427A>C c.(427-429)Aag>Cag p.K143Q SKCM 18 5291185 5291185 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr18:5291185G>A c.1022C>T c.(1021-1023)tCa>tTa p.S341L SKCM 18 5291481 5291481 + Silent SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 g.chr18:5291481A>G c.726T>C c.(724-726)aaT>aaC p.N242N SKCM 18 5291963 5291963 + Missense_Mutation SNP G G A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr18:5291963G>A c.244C>T c.(244-246)Cgt>Tgt p.R82C SKCM 18 5291963 5291963 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr18:5291963G>A c.244C>T c.(244-246)Cgt>Tgt p.R82C SKCM 18 5292012 5292012 + Silent SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr18:5292012G>A c.195C>T c.(193-195)ttC>ttT p.F65F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 18 5290926 5290926 single base substitution T A downstream_gene_variant BLCA-CN 18 5290926 5290926 single base substitution T A synonymous_variant T427T 1281A>T BLCA-CN 18 5291347 5291347 single base substitution G A downstream_gene_variant BLCA-CN 18 5291347 5291347 single base substitution G A missense_variant S287F 860C>T BLCA-CN 18 5292072 5292072 single base substitution C T downstream_gene_variant BLCA-CN 18 5292072 5292072 single base substitution C T synonymous_variant V45V 135G>A BOCA-FR 18 5290483 5290483 single base substitution A G 3_prime_UTR_variant BOCA-FR 18 5290483 5290483 single base substitution A G downstream_gene_variant BRCA-EU 18 5284448 5284448 single base substitution C T downstream_gene_variant BRCA-EU 18 5285929 5285929 single base substitution C G downstream_gene_variant BRCA-EU 18 5286176 5286176 single base substitution C G downstream_gene_variant BRCA-EU 18 5286776 5286776 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 5288233 5288233 single base substitution C T downstream_gene_variant BRCA-EU 18 5292856 5292856 single base substitution C T intron_variant BRCA-EU 18 5293110 5293110 single base substitution T C intron_variant BRCA-EU 18 5293363 5293363 single base substitution C A exon_variant BRCA-EU 18 5293363 5293363 single base substitution C A intron_variant BRCA-EU 18 5293653 5293653 insertion of <=200bp - A intron_variant BRCA-EU 18 5293653 5293653 insertion of <=200bp - A upstream_gene_variant BRCA-EU 18 5294805 5294805 single base substitution C G 5_prime_UTR_variant BRCA-EU 18 5294805 5294805 single base substitution C G intron_variant BRCA-EU 18 5294805 5294805 single base substitution C G upstream_gene_variant BRCA-EU 18 5295400 5295400 single base substitution C G intron_variant BRCA-EU 18 5295400 5295400 single base substitution C G upstream_gene_variant BRCA-EU 18 5295883 5295883 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 18 5295883 5295883 single base substitution G C intron_variant BRCA-EU 18 5295883 5295883 single base substitution G C upstream_gene_variant BRCA-EU 18 5296193 5296193 single base substitution A G 5_prime_UTR_variant BRCA-EU 18 5296193 5296193 single base substitution A G intron_variant BRCA-EU 18 5296193 5296193 single base substitution A G upstream_gene_variant BRCA-EU 18 5296208 5296208 single base substitution G A intron_variant BRCA-EU 18 5296208 5296208 single base substitution G A upstream_gene_variant BRCA-EU 18 5297051 5297051 single base substitution G C 5_prime_UTR_variant BRCA-EU 18 5297051 5297051 single base substitution G C upstream_gene_variant BRCA-EU 18 5297055 5297055 single base substitution C T upstream_gene_variant BRCA-EU 18 5297754 5297754 single base substitution A T upstream_gene_variant BRCA-EU 18 5298936 5298936 single base substitution T C upstream_gene_variant BRCA-EU 18 5299228 5299228 single base substitution C T upstream_gene_variant BRCA-EU 18 5299504 5299504 single base substitution C A upstream_gene_variant BRCA-EU 18 5299549 5299549 single base substitution G A upstream_gene_variant BRCA-EU 18 5299582 5299582 single base substitution G A upstream_gene_variant BRCA-EU 18 5300950 5300950 deletion of <=200bp A - upstream_gene_variant BRCA-FR 18 5286176 5286176 single base substitution C G downstream_gene_variant BRCA-UK 18 5293110 5293110 single base substitution T C intron_variant BRCA-UK 18 5293363 5293363 single base substitution C A exon_variant BRCA-UK 18 5293363 5293363 single base substitution C A intron_variant BRCA-US 18 5290912 5290912 single base substitution G A downstream_gene_variant BRCA-US 18 5290912 5290912 single base substitution G A missense_variant A432V 1295C>T BRCA-US 18 5290995 5290995 single base substitution C T downstream_gene_variant BRCA-US 18 5290995 5290995 single base substitution C T synonymous_variant L404L 1212G>A BRCA-US 18 5291276 5291276 single base substitution T C downstream_gene_variant BRCA-US 18 5291276 5291276 single base substitution T C missense_variant T311A 931A>G BRCA-US 18 5291339 5291339 single base substitution C T downstream_gene_variant BRCA-US 18 5291339 5291339 single base substitution C T missense_variant G290S 868G>A BRCA-US 18 5291511 5291511 single base substitution C T downstream_gene_variant BRCA-US 18 5291511 5291511 single base substitution C T synonymous_variant G232G 696G>A BTCA-JP 18 5291387 5291387 single base substitution G A downstream_gene_variant BTCA-JP 18 5291387 5291387 single base substitution G A missense_variant R274W 820C>T BTCA-JP 18 5292032 5292032 single base substitution T C downstream_gene_variant BTCA-JP 18 5292032 5292032 single base substitution T C missense_variant T59A 175A>G CESC-US 18 5291062 5291062 single base substitution C T downstream_gene_variant CESC-US 18 5291062 5291062 single base substitution C T missense_variant R382K 1145G>A COAD-US 18 5291047 5291047 deletion of <=200bp T - downstream_gene_variant COAD-US 18 5291047 5291047 deletion of <=200bp T - frameshift_variant K387 COAD-US 18 5291118 5291118 single base substitution G A downstream_gene_variant COAD-US 18 5291118 5291118 single base substitution G A synonymous_variant C363C 1089C>T COAD-US 18 5291559 5291559 single base substitution G A downstream_gene_variant COAD-US 18 5291559 5291559 single base substitution G A synonymous_variant Y216Y 648C>T COAD-US 18 5291921 5291921 single base substitution C T downstream_gene_variant COAD-US 18 5291921 5291921 single base substitution C T missense_variant A96T 286G>A COAD-US 18 5291963 5291963 single base substitution G A downstream_gene_variant COAD-US 18 5291963 5291963 single base substitution G A missense_variant R82C 244C>T COCA-CN 18 5291809 5291809 single base substitution G A downstream_gene_variant COCA-CN 18 5291809 5291809 single base substitution G A missense_variant P133L 398C>T COCA-CN 18 5293159 5293159 single base substitution A G intron_variant COCA-CN 18 5293390 5293390 single base substitution G T exon_variant COCA-CN 18 5293390 5293390 single base substitution G T intron_variant EOPC-DE 18 5293926 5293926 single base substitution T G intron_variant EOPC-DE 18 5293926 5293926 single base substitution T G upstream_gene_variant EOPC-DE 18 5293943 5293943 single base substitution C T intron_variant EOPC-DE 18 5293943 5293943 single base substitution C T upstream_gene_variant ESAD-UK 18 5284472 5284472 single base substitution A G downstream_gene_variant ESAD-UK 18 5284813 5284813 single base substitution C T downstream_gene_variant ESAD-UK 18 5285112 5285112 single base substitution A G downstream_gene_variant ESAD-UK 18 5285305 5285305 single base substitution C A downstream_gene_variant ESAD-UK 18 5286830 5286830 single base substitution G C downstream_gene_variant ESAD-UK 18 5287847 5287847 single base substitution G T downstream_gene_variant ESAD-UK 18 5289171 5289171 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 18 5289171 5289171 deletion of <=200bp A - downstream_gene_variant ESAD-UK 18 5289461 5289461 single base substitution A G 3_prime_UTR_variant ESAD-UK 18 5289461 5289461 single base substitution A G downstream_gene_variant ESAD-UK 18 5290072 5290072 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 5290072 5290072 single base substitution C T downstream_gene_variant ESAD-UK 18 5291168 5291168 single base substitution C T downstream_gene_variant ESAD-UK 18 5291168 5291168 single base substitution C T missense_variant D347N 1039G>A ESAD-UK 18 5291638 5291638 single base substitution G A downstream_gene_variant ESAD-UK 18 5291638 5291638 single base substitution G A missense_variant S190L 569C>T ESAD-UK 18 5292261 5292261 single base substitution C A intron_variant ESAD-UK 18 5294501 5294501 single base substitution C T intron_variant ESAD-UK 18 5294501 5294501 single base substitution C T upstream_gene_variant ESAD-UK 18 5295395 5295395 single base substitution C A intron_variant ESAD-UK 18 5295395 5295395 single base substitution C A upstream_gene_variant ESAD-UK 18 5296114 5296114 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 18 5296114 5296114 single base substitution C G intron_variant ESAD-UK 18 5296114 5296114 single base substitution C G upstream_gene_variant ESAD-UK 18 5298000 5298000 single base substitution C T upstream_gene_variant ESAD-UK 18 5298329 5298329 single base substitution C T upstream_gene_variant ESAD-UK 18 5298598 5298598 single base substitution G C upstream_gene_variant ESAD-UK 18 5300320 5300320 single base substitution G A upstream_gene_variant ESAD-UK 18 5300587 5300587 single base substitution C T upstream_gene_variant LICA-FR 18 5292006 5292006 single base substitution C T downstream_gene_variant LICA-FR 18 5292006 5292006 single base substitution C T synonymous_variant K67K 201G>A LICA-FR 18 5301253 5301253 single base substitution T C upstream_gene_variant LIHC-US 18 5290910 5290910 deletion of <=200bp C - downstream_gene_variant LIHC-US 18 5290910 5290910 deletion of <=200bp C - frameshift_variant A433 LIHC-US 18 5291325 5291325 single base substitution C A downstream_gene_variant LIHC-US 18 5291325 5291325 single base substitution C A missense_variant K294N 882G>T LIHC-US 18 5291933 5291933 single base substitution A T downstream_gene_variant LIHC-US 18 5291933 5291933 single base substitution A T missense_variant Y92N 274T>A LINC-JP 18 5289721 5289721 single base substitution T C 3_prime_UTR_variant LINC-JP 18 5289721 5289721 single base substitution T C downstream_gene_variant LINC-JP 18 5294051 5294051 single base substitution G A intron_variant LINC-JP 18 5294051 5294051 single base substitution G A upstream_gene_variant LINC-JP 18 5294073 5294073 single base substitution G A intron_variant LINC-JP 18 5294073 5294073 single base substitution G A upstream_gene_variant LINC-JP 18 5294195 5294195 single base substitution A G intron_variant LINC-JP 18 5294195 5294195 single base substitution A G upstream_gene_variant LINC-JP 18 5300044 5300044 single base substitution G T upstream_gene_variant LIRI-JP 18 5284754 5284755 deletion of <=200bp AC - downstream_gene_variant LIRI-JP 18 5284922 5284927 deletion of <=200bp TTTATC - downstream_gene_variant LIRI-JP 18 5285885 5285885 single base substitution T C downstream_gene_variant LIRI-JP 18 5286465 5286465 single base substitution C T downstream_gene_variant LIRI-JP 18 5287384 5287384 single base substitution A T downstream_gene_variant LIRI-JP 18 5287808 5287808 single base substitution T C downstream_gene_variant LIRI-JP 18 5288319 5288319 single base substitution T G downstream_gene_variant LIRI-JP 18 5289103 5289103 single base substitution T A 3_prime_UTR_variant LIRI-JP 18 5289103 5289103 single base substitution T A downstream_gene_variant LIRI-JP 18 5289531 5289531 single base substitution T C 3_prime_UTR_variant LIRI-JP 18 5289531 5289531 single base substitution T C downstream_gene_variant LIRI-JP 18 5290974 5290974 single base substitution C T downstream_gene_variant LIRI-JP 18 5290974 5290974 single base substitution C T missense_variant M411I 1233G>A LIRI-JP 18 5293372 5293372 single base substitution T C exon_variant LIRI-JP 18 5293372 5293372 single base substitution T C intron_variant LIRI-JP 18 5293703 5293703 single base substitution T C intron_variant LIRI-JP 18 5293703 5293703 single base substitution T C upstream_gene_variant LIRI-JP 18 5296764 5296764 single base substitution G A intron_variant LIRI-JP 18 5296764 5296764 single base substitution G A upstream_gene_variant LIRI-JP 18 5297605 5297605 single base substitution G A upstream_gene_variant LIRI-JP 18 5298063 5298063 single base substitution G T upstream_gene_variant LIRI-JP 18 5298778 5298778 single base substitution C G upstream_gene_variant LIRI-JP 18 5298931 5298931 deletion of <=200bp T - upstream_gene_variant LIRI-JP 18 5299094 5299094 single base substitution A G upstream_gene_variant LIRI-JP 18 5299262 5299262 single base substitution G T upstream_gene_variant LIRI-JP 18 5299386 5299386 single base substitution T C upstream_gene_variant LIRI-JP 18 5300032 5300032 single base substitution T C upstream_gene_variant LUSC-KR 18 5285148 5285148 single base substitution T C downstream_gene_variant LUSC-KR 18 5285790 5285790 single base substitution C T downstream_gene_variant LUSC-KR 18 5286301 5286301 single base substitution A T downstream_gene_variant LUSC-KR 18 5289285 5289285 single base substitution C A 3_prime_UTR_variant LUSC-KR 18 5289285 5289285 single base substitution C A downstream_gene_variant LUSC-KR 18 5290010 5290010 single base substitution T C 3_prime_UTR_variant LUSC-KR 18 5290010 5290010 single base substitution T C downstream_gene_variant LUSC-KR 18 5290596 5290596 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 5290596 5290596 single base substitution A T downstream_gene_variant LUSC-KR 18 5290752 5290752 single base substitution T C 3_prime_UTR_variant LUSC-KR 18 5290752 5290752 single base substitution T C downstream_gene_variant LUSC-KR 18 5293678 5293678 single base substitution T C intron_variant LUSC-KR 18 5293678 5293678 single base substitution T C upstream_gene_variant LUSC-KR 18 5296418 5296418 single base substitution G A intron_variant LUSC-KR 18 5296418 5296418 single base substitution G A upstream_gene_variant LUSC-KR 18 5296929 5296929 single base substitution C A intron_variant LUSC-KR 18 5296929 5296929 single base substitution C A upstream_gene_variant LUSC-KR 18 5297580 5297580 single base substitution G C upstream_gene_variant LUSC-KR 18 5297730 5297730 single base substitution C T upstream_gene_variant LUSC-KR 18 5299308 5299308 single base substitution G A upstream_gene_variant LUSC-KR 18 5300544 5300544 single base substitution G C upstream_gene_variant LUSC-KR 18 5301434 5301434 single base substitution A G upstream_gene_variant LUSC-US 18 5291254 5291254 single base substitution G T downstream_gene_variant LUSC-US 18 5291254 5291254 single base substitution G T missense_variant A318D 953C>A LUSC-US 18 5291962 5291962 single base substitution C T downstream_gene_variant LUSC-US 18 5291962 5291962 single base substitution C T missense_variant R82H 245G>A MALY-DE 18 5288317 5288317 single base substitution A T downstream_gene_variant MALY-DE 18 5290064 5290064 single base substitution T C 3_prime_UTR_variant MALY-DE 18 5290064 5290064 single base substitution T C downstream_gene_variant MALY-DE 18 5290065 5290065 single base substitution T A 3_prime_UTR_variant MALY-DE 18 5290065 5290065 single base substitution T A downstream_gene_variant MALY-DE 18 5291340 5291340 single base substitution T C downstream_gene_variant MALY-DE 18 5291340 5291340 single base substitution T C synonymous_variant E289E 867A>G MALY-DE 18 5293168 5293168 single base substitution C T intron_variant MELA-AU 18 5284169 5284169 single base substitution G A downstream_gene_variant MELA-AU 18 5284189 5284189 single base substitution C T downstream_gene_variant MELA-AU 18 5284999 5284999 single base substitution G A downstream_gene_variant MELA-AU 18 5285105 5285105 single base substitution G A downstream_gene_variant MELA-AU 18 5286281 5286281 single base substitution G A downstream_gene_variant MELA-AU 18 5286283 5286283 single base substitution G A downstream_gene_variant MELA-AU 18 5286304 5286304 single base substitution G A downstream_gene_variant MELA-AU 18 5287023 5287023 single base substitution G A downstream_gene_variant MELA-AU 18 5288573 5288573 single base substitution G T downstream_gene_variant MELA-AU 18 5288974 5288974 single base substitution A T downstream_gene_variant MELA-AU 18 5289068 5289068 single base substitution G A 3_prime_UTR_variant MELA-AU 18 5289068 5289068 single base substitution G A downstream_gene_variant MELA-AU 18 5289422 5289422 single base substitution G A 3_prime_UTR_variant MELA-AU 18 5289422 5289422 single base substitution G A downstream_gene_variant MELA-AU 18 5290130 5290130 single base substitution T A 3_prime_UTR_variant MELA-AU 18 5290130 5290130 single base substitution T A downstream_gene_variant MELA-AU 18 5291002 5291002 single base substitution G C downstream_gene_variant MELA-AU 18 5291002 5291002 single base substitution G C missense_variant S402C 1205C>G MELA-AU 18 5291072 5291072 single base substitution G A downstream_gene_variant MELA-AU 18 5291072 5291072 single base substitution G A missense_variant H379Y 1135C>T MELA-AU 18 5291081 5291081 single base substitution G A downstream_gene_variant MELA-AU 18 5291081 5291081 single base substitution G A missense_variant L376F 1126C>T MELA-AU 18 5291347 5291347 single base substitution G A downstream_gene_variant MELA-AU 18 5291347 5291347 single base substitution G A missense_variant S287F 860C>T MELA-AU 18 5291777 5291777 single base substitution A G downstream_gene_variant MELA-AU 18 5291777 5291777 single base substitution A G missense_variant Y144H 430T>C MELA-AU 18 5291963 5291963 single base substitution G A downstream_gene_variant MELA-AU 18 5291963 5291963 single base substitution G A missense_variant R82C 244C>T MELA-AU 18 5292197 5292197 single base substitution A T exon_variant MELA-AU 18 5292197 5292197 single base substitution A T missense_variant F4I 10T>A MELA-AU 18 5292971 5292971 single base substitution A G intron_variant MELA-AU 18 5293990 5293990 single base substitution A G 5_prime_UTR_variant MELA-AU 18 5293990 5293990 single base substitution A G intron_variant MELA-AU 18 5293990 5293990 single base substitution A G upstream_gene_variant MELA-AU 18 5294072 5294072 single base substitution G A intron_variant MELA-AU 18 5294072 5294072 single base substitution G A upstream_gene_variant MELA-AU 18 5294957 5294957 single base substitution T A intron_variant MELA-AU 18 5294957 5294957 single base substitution T A upstream_gene_variant MELA-AU 18 5297723 5297723 single base substitution A T upstream_gene_variant MELA-AU 18 5298042 5298042 single base substitution C T upstream_gene_variant MELA-AU 18 5298780 5298780 single base substitution C T upstream_gene_variant MELA-AU 18 5298802 5298802 single base substitution T C upstream_gene_variant MELA-AU 18 5299065 5299065 single base substitution C T upstream_gene_variant MELA-AU 18 5299280 5299280 deletion of <=200bp G - upstream_gene_variant MELA-AU 18 5299424 5299424 single base substitution G A upstream_gene_variant MELA-AU 18 5299667 5299667 single base substitution C T upstream_gene_variant MELA-AU 18 5299812 5299812 single base substitution C T upstream_gene_variant MELA-AU 18 5299928 5299928 single base substitution G A upstream_gene_variant MELA-AU 18 5299938 5299938 single base substitution G A upstream_gene_variant MELA-AU 18 5300009 5300009 single base substitution C T upstream_gene_variant MELA-AU 18 5300039 5300039 single base substitution C T upstream_gene_variant MELA-AU 18 5300808 5300821 deletion of <=200bp TTTCCTGGGCTCAT - upstream_gene_variant MELA-AU 18 5300852 5300852 single base substitution C T upstream_gene_variant MELA-AU 18 5302003 5302003 single base substitution C T upstream_gene_variant ORCA-IN 18 5284841 5284841 single base substitution G A downstream_gene_variant ORCA-IN 18 5301963 5301963 single base substitution G T upstream_gene_variant OV-AU 18 5285616 5285616 single base substitution G A downstream_gene_variant OV-AU 18 5290042 5290042 single base substitution A C 3_prime_UTR_variant OV-AU 18 5290042 5290042 single base substitution A C downstream_gene_variant OV-AU 18 5294948 5294948 single base substitution C G intron_variant OV-AU 18 5294948 5294948 single base substitution C G upstream_gene_variant OV-AU 18 5296974 5296974 single base substitution C T intron_variant OV-AU 18 5296974 5296974 single base substitution C T upstream_gene_variant OV-AU 18 5299295 5299295 single base substitution A T upstream_gene_variant PACA-AU 18 5286967 5286967 single base substitution A G downstream_gene_variant PACA-AU 18 5287619 5287619 deletion of <=200bp C - downstream_gene_variant PACA-AU 18 5289862 5289862 single base substitution C T 3_prime_UTR_variant PACA-AU 18 5289862 5289862 single base substitution C T downstream_gene_variant PACA-AU 18 5298382 5298382 single base substitution A G upstream_gene_variant PACA-AU 18 5301349 5301349 single base substitution T C upstream_gene_variant PACA-CA 18 5289287 5289287 single base substitution T A 3_prime_UTR_variant PACA-CA 18 5289287 5289287 single base substitution T A downstream_gene_variant PACA-CA 18 5289474 5289474 single base substitution T C 3_prime_UTR_variant PACA-CA 18 5289474 5289474 single base substitution T C downstream_gene_variant PACA-CA 18 5290152 5290152 single base substitution C T 3_prime_UTR_variant PACA-CA 18 5290152 5290152 single base substitution C T downstream_gene_variant PACA-CA 18 5291178 5291178 single base substitution G A downstream_gene_variant PACA-CA 18 5291178 5291178 single base substitution G A synonymous_variant I343I 1029C>T PACA-CA 18 5294360 5294360 insertion of <=200bp - A intron_variant PACA-CA 18 5294360 5294360 insertion of <=200bp - A upstream_gene_variant PACA-CA 18 5297731 5297731 single base substitution A G upstream_gene_variant PACA-CA 18 5298008 5298008 single base substitution G A upstream_gene_variant PACA-CA 18 5300450 5300450 single base substitution G T upstream_gene_variant PACA-CA 18 5301730 5301730 insertion of <=200bp - T upstream_gene_variant PBCA-DE 18 5299135 5299135 single base substitution A G upstream_gene_variant PBCA-DE 18 5301402 5301403 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 18 5302051 5302054 deletion of <=200bp TTTC - upstream_gene_variant PBCA-DE 18 5302051 5302058 deletion of <=200bp TTTCATCT - upstream_gene_variant PRAD-CA 18 5290154 5290154 single base substitution C A 3_prime_UTR_variant PRAD-CA 18 5290154 5290154 single base substitution C A downstream_gene_variant PRAD-CA 18 5290155 5290155 single base substitution C A 3_prime_UTR_variant PRAD-CA 18 5290155 5290155 single base substitution C A downstream_gene_variant PRAD-CA 18 5295811 5295811 single base substitution C A intron_variant PRAD-CA 18 5295811 5295811 single base substitution C A splice_donor_variant PRAD-CA 18 5295811 5295811 single base substitution C A upstream_gene_variant PRAD-CA 18 5296924 5296924 single base substitution C T intron_variant PRAD-CA 18 5296924 5296924 single base substitution C T upstream_gene_variant PRAD-UK 18 5288434 5288434 single base substitution A G downstream_gene_variant RECA-EU 18 5287306 5287306 single base substitution T G downstream_gene_variant SKCA-BR 18 5284019 5284019 single base substitution G A downstream_gene_variant SKCA-BR 18 5286283 5286283 single base substitution G A downstream_gene_variant SKCA-BR 18 5287929 5287929 single base substitution G A downstream_gene_variant SKCA-BR 18 5287965 5287965 single base substitution G A downstream_gene_variant SKCA-BR 18 5290587 5290587 single base substitution T G 3_prime_UTR_variant SKCA-BR 18 5290587 5290587 single base substitution T G downstream_gene_variant SKCA-BR 18 5291576 5291576 single base substitution G A downstream_gene_variant SKCA-BR 18 5291576 5291576 single base substitution G A missense_variant R211W 631C>T SKCA-BR 18 5292859 5292859 single base substitution C G intron_variant SKCA-BR 18 5295950 5295950 single base substitution A G 5_prime_UTR_variant SKCA-BR 18 5295950 5295950 single base substitution A G intron_variant SKCA-BR 18 5295950 5295950 single base substitution A G upstream_gene_variant SKCA-BR 18 5297767 5297767 single base substitution C A upstream_gene_variant SKCA-BR 18 5298576 5298576 single base substitution G A upstream_gene_variant SKCA-BR 18 5300039 5300039 single base substitution C T upstream_gene_variant SKCA-BR 18 5301503 5301503 single base substitution C T upstream_gene_variant SKCM-US 18 5291185 5291185 single base substitution G A downstream_gene_variant SKCM-US 18 5291185 5291185 single base substitution G A missense_variant S341L 1022C>T SKCM-US 18 5291963 5291963 single base substitution G A downstream_gene_variant SKCM-US 18 5291963 5291963 single base substitution G A missense_variant R82C 244C>T SKCM-US 18 5292012 5292012 single base substitution G A downstream_gene_variant SKCM-US 18 5292012 5292012 single base substitution G A synonymous_variant F65F 195C>T STAD-US 18 5291265 5291265 single base substitution G A downstream_gene_variant STAD-US 18 5291265 5291265 single base substitution G A synonymous_variant F314F 942C>T STAD-US 18 5291330 5291330 single base substitution T C downstream_gene_variant STAD-US 18 5291330 5291330 single base substitution T C missense_variant R293G 877A>G STAD-US 18 5291431 5291431 single base substitution G A downstream_gene_variant STAD-US 18 5291431 5291431 single base substitution G A missense_variant A259V 776C>T STAD-US 18 5291879 5291879 single base substitution A G downstream_gene_variant STAD-US 18 5291879 5291879 single base substitution A G missense_variant S110P 328T>C STAD-US 18 5292000 5292000 single base substitution C A downstream_gene_variant STAD-US 18 5292000 5292000 single base substitution C A missense_variant E69D 207G>T STAD-US 18 5292149 5292149 single base substitution T C exon_variant STAD-US 18 5292149 5292149 single base substitution T C missense_variant T20A 58A>G THCA-SA 18 5289887 5289887 single base substitution C G 3_prime_UTR_variant THCA-SA 18 5289887 5289887 single base substitution C G downstream_gene_variant THCA-SA 18 5290174 5290174 single base substitution G A 3_prime_UTR_variant THCA-SA 18 5290174 5290174 single base substitution G A downstream_gene_variant THCA-SA 18 5292030 5292030 single base substitution A G downstream_gene_variant THCA-SA 18 5292030 5292030 single base substitution A G synonymous_variant T59T 177T>C UCEC-US 18 5290626 5290626 deletion of <=200bp G - 3_prime_UTR_variant UCEC-US 18 5290626 5290626 deletion of <=200bp G - downstream_gene_variant UCEC-US 18 5291055 5291055 single base substitution T G downstream_gene_variant UCEC-US 18 5291055 5291055 single base substitution T G missense_variant R384S 1152A>C UCEC-US 18 5291241 5291241 single base substitution T C downstream_gene_variant UCEC-US 18 5291241 5291241 single base substitution T C synonymous_variant E322E 966A>G UCEC-US 18 5291269 5291269 single base substitution C A downstream_gene_variant UCEC-US 18 5291269 5291269 single base substitution C A missense_variant G313V 938G>T UCEC-US 18 5291337 5291337 single base substitution G A downstream_gene_variant UCEC-US 18 5291337 5291337 single base substitution G A synonymous_variant G290G 870C>T UCEC-US 18 5291353 5291353 single base substitution G A downstream_gene_variant UCEC-US 18 5291353 5291353 single base substitution G A missense_variant T285M 854C>T UCEC-US 18 5291429 5291429 single base substitution C T downstream_gene_variant UCEC-US 18 5291429 5291429 single base substitution C T missense_variant A260T 778G>A UCEC-US 18 5291576 5291576 single base substitution G A downstream_gene_variant UCEC-US 18 5291576 5291576 single base substitution G A missense_variant R211W 631C>T UCEC-US 18 5291608 5291608 single base substitution G A downstream_gene_variant UCEC-US 18 5291608 5291608 single base substitution G A missense_variant A200V 599C>T UCEC-US 18 5291669 5291669 single base substitution C A downstream_gene_variant UCEC-US 18 5291669 5291669 single base substitution C A missense_variant G180C 538G>T UCEC-US 18 5291968 5291968 single base substitution A C downstream_gene_variant UCEC-US 18 5291968 5291968 single base substitution A C missense_variant F80C 239T>G UCEC-US 18 5292107 5292107 single base substitution C A exon_variant UCEC-US 18 5292107 5292107 single base substitution C A stop_gained E34* 100G>T UCEC-US 18 5292118 5292118 single base substitution C T exon_variant UCEC-US 18 5292118 5292118 single base substitution C T missense_variant R30H 89G>A UCEC-US 18 5292173 5292173 single base substitution T G exon_variant UCEC-US 18 5292173 5292173 single base substitution T G missense_variant K12Q 34A>C UCEC-US 18 5292192 5292192 single base substitution G A exon_variant UCEC-US 18 5292192 5292192 single base substitution G A synonymous_variant I5I 15C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-GN-A266-06 COSM1389220 c.244C>T p.R82C Substitution - Missense 18:5291964-5291964 - TCGA-BS-A0TC-01 COSM989030 c.34A>C p.K12Q Substitution - Missense 18:5292174-5292174 - TCGA-D1-A0ZZ-01 COSM989031 c.15C>T p.I5I Substitution - coding silent 18:5292193-5292193 - TCGA-CG-5722-01 COSM4072619 c.942C>T p.F314F Substitution - coding silent 18:5291266-5291266 - STC252 COSM5056075 c.910C>T p.P304S Substitution - Missense 18:5291298-5291298 - B80-0-Tumor COSM1750550 c.1281A>T p.T427T Substitution - coding silent 18:5290927-5290927 - TCGA-B5-A0JY-01 COSM989024 c.631C>T p.R211W Substitution - Missense 18:5291577-5291577 - TCGA-DG-A2KK-01 COSM4828471 c.1145G>A p.R382K Substitution - Missense 18:5291063-5291063 - 6115237 COSM5551698 c.511G>A p.D171N Substitution - Missense 18:5291697-5291697 - TCGA-BS-A0UA-01 COSM989025 c.599C>T p.A200V Substitution - Missense 18:5291609-5291609 - BD6T COSM2880120 c.175A>G p.T59A Substitution - Missense 18:5292033-5292033 - 169 COSM3728991 c.4-7_4-5delTTT p.? Unknown 18:5292209-5292211 - Gp5D COSM2880103 c.1043T>C p.L348S Substitution - Missense 18:5291165-5291165 - SNU-C2B COSM2880107 c.840G>T p.Q280H Substitution - Missense 18:5291368-5291368 - TCGA-61-2092-01 COSM73361 c.1036C>T p.P346S Substitution - Missense 18:5291172-5291172 - TCGA-D1-A17H-01 COSM989019 c.966A>G p.E322E Substitution - coding silent 18:5291242-5291242 - Pat_76_A COSM5854281 c.1033G>A p.A345T Substitution - Missense 18:5291175-5291175 - LUAD-RT-S01866 COSM385144 c.1291C>T p.Q431* Substitution - Nonsense 18:5290917-5290917 - LUAD_E01047 COSM390117 c.704C>T p.T235I Substitution - Missense 18:5291504-5291504 - T263 COSM4742606 c.738T>A p.S246R Substitution - Missense 18:5291470-5291470 - MD-028 COSM303603 c.700C>T p.Q234* Substitution - Nonsense 18:5291508-5291508 - TCGA-AA-3833-01 COSM271613 c.958C>T p.L320L Substitution - coding silent 18:5291250-5291250 - TCGA-22-5472-01 COSM709338 c.245G>A p.R82H Substitution - Missense 18:5291963-5291963 - TCGA-AX-A0J0-01 COSM989018 c.1152A>C p.R384S Substitution - Missense 18:5291056-5291056 - RK038_C01 COSM3701381 c.1233G>A p.M411I Substitution - Missense 18:5290975-5290975 - Pat_76_B COSM5854281 c.1033G>A p.A345T Substitution - Missense 18:5291175-5291175 - ATL071 COSM5706768 c.979C>T p.H327Y Substitution - Missense 18:5291229-5291229 - SNU-C4 COSM4652983 c.1085C>T p.A362V Substitution - Missense 18:5291123-5291123 - TCGA-D1-A103-01 COSM989026 c.538G>T p.G180C Substitution - Missense 18:5291670-5291670 - TCGA-EB-A5UL-06 COSM1389220 c.244C>T p.R82C Substitution - Missense 18:5291964-5291964 - TCGA-A8-A094-01 COSM438223 c.868G>A p.G290S Substitution - Missense 18:5291340-5291340 - TCGA-F4-6570-01 COSM1389217 c.648C>T p.Y216Y Substitution - coding silent 18:5291560-5291560 - SNUH_G26_S1 COSM2880115 c.600G>A p.A200A Substitution - coding silent 18:5291608-5291608 - ESO-175 COSM1270867 c.635A>C p.K212T Substitution - Missense 18:5291573-5291573 - S00539 COSM316675 c.203_206delTTGA p.L68fs*8 Deletion - Frameshift 18:5292002-5292005 - TCGA-RC-A7SF-01 COSM4923168 c.274T>A p.Y92N Substitution - Missense 18:5291934-5291934 - TCGA-BR-6452-01 COSM4072620 c.877A>G p.R293G Substitution - Missense 18:5291331-5291331 - TCGA-AP-A051-01 COSM989029 c.89G>A p.R30H Substitution - Missense 18:5292119-5292119 - TCGA-F4-6856-01 COSM1389215 c.1160delA p.K387fs*18 Deletion - Frameshift 18:5291048-5291048 - TCGA-BG-A18B-01 COSM989022 c.854C>T p.T285M Substitution - Missense 18:5291354-5291354 - pfg143T COSM4746556 c.485_487delATG p.D162delD Deletion - In frame 18:5291721-5291723 - TCGA-66-2785-01 COSM709340 c.953C>A p.A318D Substitution - Missense 18:5291255-5291255 - TCGA-RP-A695-06 COSM4897062 c.195C>T p.F65F Substitution - coding silent 18:5292013-5292013 - SJRHB059R COSM3738327 c.1111A>C p.K371Q Substitution - Missense 18:5291097-5291097 - B54-Tumor COSM1750551 c.860C>T p.S287F Substitution - Missense 18:5291348-5291348 - TCGA-A8-A06T-01 COSM438222 c.1295C>T p.A432V Substitution - Missense 18:5290913-5290913 - TCGA-DD-A39Y-01 COSM4934485 c.882G>T p.K294N Substitution - Missense 18:5291326-5291326 - BD57T COSM5510944 c.820C>T p.R274W Substitution - Missense 18:5291388-5291388 - TCGA-CG-4438-01 COSM4072623 c.207G>T p.E69D Substitution - Missense 18:5292001-5292001 - 9-RS COSM1731905 c.955C>A p.H319N Substitution - Missense 18:5291253-5291253 - TCGA-AK-3451-01 COSM473918 c.1040A>G p.D347G Substitution - Missense 18:5291168-5291168 - TCGA-AZ-4315-01 COSM1389220 c.244C>T p.R82C Substitution - Missense 18:5291964-5291964 - 2217235 COSM4169767 c.383G>A p.R128H Substitution - Missense 18:5291825-5291825 - B101 COSM1750552 c.135G>A p.V45V Substitution - coding silent 18:5292073-5292073 - LUAD_E00623 COSM353984 c.812G>T p.G271V Substitution - Missense 18:5291396-5291396 - TCGA-BR-4184-01 COSM4072624 c.58A>G p.T20A Substitution - Missense 18:5292150-5292150 - TCGA-A7-A3IZ-01 COSM3821583 c.931A>G p.T311A Substitution - Missense 18:5291277-5291277 - T3021 COSM4742607 c.581C>T p.T194M Substitution - Missense 18:5291627-5291627 - TCGA-FS-A1ZZ-06 COSM3526547 c.1022C>T p.S341L Substitution - Missense 18:5291186-5291186 - MO_1015 COSM5559725 c.162T>C p.L54L Substitution - coding silent 18:5292046-5292046 - TCGA-AP-A056-01 COSM989028 c.100G>T p.E34* Substitution - Nonsense 18:5292108-5292108 - TCGA-CK-5916-01 COSM179153 c.1089C>T p.C363C Substitution - coding silent 18:5291119-5291119 - 587222 COSM1233386 c.94G>A p.E32K Substitution - Missense 18:5292114-5292114 - HCT15 COSM2880110 c.773C>T p.T258I Substitution - Missense 18:5291435-5291435 - TCGA-BG-A0M3-01 COSM709340 c.953C>A p.A318D Substitution - Missense 18:5291255-5291255 - TCGA-B5-A11E-01 COSM989023 c.778G>A p.A260T Substitution - Missense 18:5291430-5291430 - ATL048 COSM5706769 c.347G>A p.G116D Substitution - Missense 18:5291861-5291861 - LUAD-VUMN6 COSM347901 c.1232T>A p.M411K Substitution - Missense 18:5290976-5290976 - TCGA-HF-7132-01 COSM4072621 c.776C>T p.A259V Substitution - Missense 18:5291432-5291432 - TCGA-CH-5739-01 COSM3672682 c.333G>T p.S111S Substitution - coding silent 18:5291875-5291875 - S00539 COSM316675 c.203_206delTTGA p.L68fs*8 Deletion - Frameshift 18:5292002-5292005 - TCGA-AO-A0J2-01 COSM438224 c.696G>A p.G232G Substitution - coding silent 18:5291512-5291512 - sysucc-274T COSM5476006 c.398C>T p.P133L Substitution - Missense 18:5291810-5291810 - TCGA-HU-A4GT-01 COSM4072622 c.328T>C p.S110P Substitution - Missense 18:5291880-5291880 - PT16_1 COSM5898568 c.332C>T p.S111L Substitution - Missense 18:5291876-5291876 - SM-4B295 COSM4413217 c.569C>T p.S190L Substitution - Missense 18:5291639-5291639 - TCGA-AX-A063-01 COSM989020 c.938G>T p.G313V Substitution - Missense 18:5291270-5291270 - CHC892T COSM4796398 c.201G>A p.K67K Substitution - coding silent 18:5292007-5292007 - B101-Tumor COSM1750552 c.135G>A p.V45V Substitution - coding silent 18:5292073-5292073 - CHC892T COSM4796398 c.201G>A p.K67K Substitution - coding silent 18:5292007-5292007 - B80-0 COSM1750550 c.1281A>T p.T427T Substitution - coding silent 18:5290927-5290927 - TCGA-GM-A2D9-01 COSM3821582 c.1212G>A p.L404L Substitution - coding silent 18:5290996-5290996 - 193 COSM3724237 c.758C>G p.T253R Substitution - Missense 18:5291450-5291450 - 587376 COSM1233387 c.221C>T p.S74L Substitution - Missense 18:5291987-5291987 - TCGA-AP-A059-01 COSM989021 c.870C>T p.G290G Substitution - coding silent 18:5291338-5291338 - PCSI_0069_Pa_X COSM3378524 c.1029C>T p.I343I Substitution - coding silent 18:5291179-5291179 - CHOL06 COSM1744771 c.1245G>A p.R415R Substitution - coding silent 18:5290963-5290963 - 587220 COSM1233385 c.580A>G p.T194A Substitution - Missense 18:5291628-5291628 - ESCC_160 COSM5647306 c.1318G>A p.E440K Substitution - Missense 18:5290890-5290890 - SA210 COSM213836 c.1188G>C p.K396N Substitution - Missense 18:5291020-5291020 - PD4772a COSM3719190 c.1227C>T p.N409N Substitution - coding silent 18:5290981-5290981 - 2530678 COSM709338 c.245G>A p.R82H Substitution - Missense 18:5291963-5291963 - TCGA-D5-6930-01 COSM1389219 c.286G>A p.A96T Substitution - Missense 18:5291922-5291922 - B54 COSM1750551 c.860C>T p.S287F Substitution - Missense 18:5291348-5291348 - PT15_1 COSM1389220 c.244C>T p.R82C Substitution - Missense 18:5291964-5291964 - P-Thy051 COSM5094780 c.373_391del19 p.S125fs*18 Deletion - Frameshift 18:5291817-5291835 - TCGA-B5-A11E-01 COSM989027 c.239T>G p.F80C Substitution - Missense 18:5291969-5291969 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.592337;Hs.592339;Hs.592340 18pter-p11.21 602126

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.I11N c.32T>A 18 5292175 CM C A Missense p.E69D c.207G>T 18 5292000 STAD C A Missense p.G313V c.938G>T 18 5291269 UCEC C A Missense p.V418F c.1252G>T 18 5290955 LUAD C - Frameshift p.A439Qfs*8 c.1315delG 18 5290892 LUAD C G Missense p.E251Q c.751G>C 18 5291456 LUAD C G Missense p.K396N c.1188G>C 18 5291019 BRCA C G Missense p.W256C c.768G>C 18 5291439 HNSC C T 3-UTRSNV . c.1347+56G>A 18 5290804 CM C T Missense p.G290S c.868G>A 18 5291339 BRCA C T Missense p.M365I c.1095G>A 18 5291112 HNSC C T Missense p.R82H c.245G>A 18 5291962 LUSC C T Synonymous p.G232G c.696G>A 18 5291511 BRCA G A Missense p.A200V c.599C>T 18 5291608 UCEC G A Missense p.A432V c.1295C>T 18 5290912 BRCA G A Missense p.P346L c.1037C>T 18 5291170 HNSC G A Missense p.P346S c.1036C>T 18 5291171 OV G A Missense p.S341L c.1022C>T 18 5291185 CM G A Missense p.T285M c.854C>T 18 5291353 UCEC G A Synonymous p.F314F c.942C>T 18 5291265 STAD G A Synonymous p.I5I c.15C>T 18 5292192 UCEC G A Synonymous p.S222S c.666C>T 18 5291541 CM G C Missense p.Q424E c.1270C>G 18 5290937 LUAD G C Missense p.T258R c.773C>G 18 5291434 HNSC G T Missense p.P226T c.676C>A 18 5291531 LUAD T A Missense p.D367V c.1100A>T 18 5291107 HNSC T A Missense p.N410I c.1229A>T 18 5290978 COREAD T C Synonymous p.E322E c.966A>G 18 5291241 UCEC T G Missense p.K12Q c.34A>C 18 5292173 UCEC T G Missense p.K212T c.635A>C 18 5291572 ESCA